ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
AHDC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1108 | 1121 | |
FGR | - | - |
GRCh38 GRCh37 |
30 | 43 | |
IFI6 | - | - |
GRCh38 GRCh37 |
6 | 17 | |
LINC02574 | - | - | - | GRCh38 | - | 6 |
LOC105376892 | - | - | - | GRCh38 | - | 7 |
LOC120893124 | - | - | - | GRCh38 | - | 7 |
LOC121725006 | - | - | - | GRCh38 | - | 6 |
LOC122056813 | - | - | - | GRCh38 | - | 7 |
LOC129929879 | - | - | - | GRCh38 | - | 6 |
LOC129929880 | - | - | - | GRCh38 | - | 6 |
There are 24 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
May 3, 2012 | RCV000139133.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024